-
1
-
-
33646533134
-
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
-
Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet Part C Semin Med Genet 2006;142C:95-103.
-
(2006)
Am J Med Genet Part C Semin Med Genet
, vol.142 C
, pp. 95-103
-
-
Vockley, J.1
Ensenauer, R.2
-
2
-
-
37049001052
-
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
-
DOI 10.1016/j.ymgme.2007.09.002, PII S1096719207004015
-
Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab 2008;93:30-5. (Pubitemid 350245617)
-
(2008)
Molecular Genetics and Metabolism
, vol.93
, Issue.1
, pp. 30-35
-
-
Sass, J.O.1
Ensenauer, R.2
Roschinger, W.3
Reich, H.4
Steuerwald, U.5
Schirrmacher, O.6
Engel, K.7
Haberle, J.8
Andresen, B.S.9
Megarbane, A.10
Lehnert, W.11
Zschocke, J.12
-
3
-
-
0031752221
-
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
-
DOI 10.1023/A:1005424331822
-
Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes ANJ. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 1998;21:624-30. (Pubitemid 28427200)
-
(1998)
Journal of Inherited Metabolic Disease
, vol.21
, Issue.6
, pp. 624-630
-
-
Abdenur, J.E.1
Chamoles, N.A.2
Guinle, A.E.3
Schenone, A.B.4
Fuertes, A.N.J.5
-
4
-
-
0242362630
-
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
-
DOI 10.1373/clinchem.2003.022178
-
Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817. (Pubitemid 37340314)
-
(2003)
Clinical Chemistry
, vol.49
, Issue.11
, pp. 1797-1817
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
5
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
DOI 10.1056/NEJMoa025225
-
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-12. (Pubitemid 36638104)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.23
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
-
6
-
-
33645668108
-
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
-
Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006;29:76-85.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 76-85
-
-
Frazier, D.M.1
Millington, D.S.2
McCandless, S.E.3
Koeberl, D.D.4
Weavil, S.D.5
Chaing, S.H.6
Muenzer, J.7
-
7
-
-
33744804033
-
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry
-
Feuchtbaum L, Lorey F, Faulkner L, Sherwin J, Currier R, Bhandal A, Cunningham G. California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics 2006;117:S261-9.
-
(2006)
Pediatrics
, vol.117
-
-
Feuchtbaum, L.1
Lorey, F.2
Faulkner, L.3
Sherwin, J.4
Currier, R.5
Bhandal, A.6
Cunningham, G.7
-
8
-
-
84855605163
-
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests
-
Epub ahead of print Oct 27
-
la Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. J Inherit Metab Dis [Epub ahead of print 2008 Oct 27].
-
(2008)
J Inherit Metab Dis
-
-
La Marca, G.1
Malvagia, S.2
Casetta, B.3
Pasquini, E.4
Donati, M.A.5
Zammarchi, E.6
-
9
-
-
0037639877
-
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
-
DOI 10.1542/peds.111.6.1399
-
Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111:1399-406. (Pubitemid 36682277)
-
(2003)
Pediatrics
, vol.111
, Issue.6 I
, pp. 1399-1406
-
-
Schulze, A.1
Lindner, M.2
Kohlmuller, D.3
Olgemoller, K.4
Mayatepek, E.5
Hoffmann, G.F.6
-
10
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program
-
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 2001;47:1945-55. (Pubitemid 33010710)
-
(2001)
Clinical Chemistry
, vol.47
, Issue.11
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
Larson, C.A.4
Shih, V.E.5
Johnson, D.M.6
Strauss, A.W.7
Comeau, A.M.8
Eaton, R.B.9
Grady, G.F.10
-
11
-
-
0034837465
-
Hepatic carnitine palmitoyltransferase I deficiency: Acylcarnitine profiles in blood spots are highly specific
-
Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, et al. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem 2001;47:1763-8. (Pubitemid 32881187)
-
(2001)
Clinical Chemistry
, vol.47
, Issue.10
, pp. 1763-1768
-
-
Fingerhut, R.1
Roschinger, W.2
Muntau, A.C.3
Dame, T.4
Kreischer, J.5
Arnecke, R.6
Superti-Furga, A.7
Troxler, H.8
Liebl, B.9
Olgemoller, B.10
Roscher, A.A.11
-
12
-
-
8844230268
-
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
-
DOI 10.1086/426318
-
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004;75:1136-42. (Pubitemid 39532082)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.6
, pp. 1136-1142
-
-
Ensenauer, R.1
Vockley, J.2
Willard, J.-M.3
Huey, J.C.4
Sass, J.O.5
Edland, S.D.6
Burton, B.K.7
Berry, S.A.8
Santer, R.9
Grunert, S.10
Koch, H.-G.11
Marquardt, I.12
Rinaldo, P.13
Hahn, S.14
Matern, D.15
-
13
-
-
59749105166
-
Blood acylcarnitine and amino acid analysis in cord blood samples: Efficacy and reference data from a large cohort study
-
Walter JH, Patterson A, Till J. Besley GTN, Fleming G, Henderson MJ. Blood acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J Inherit Metab Dis 2009;32:95-101.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 95-101
-
-
Walter, J.H.1
Patterson, A.2
Till, J.3
Besley, G.T.N.4
Fleming, G.5
Henderson, M.J.6
-
14
-
-
33745144350
-
Beschluss über eine Änderung der Richtlinie des Bundesausschusses der Ärzte und Krankenkassen über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres (Kinder-Richtlinien) zur Einführung des erweiterten Neugeborenen-Screenings vom 21. Dezember 2004
-
Hess R. Beschluss über eine Änderung der Richtlinie des Bundesausschusses der Ärzte und Krankenkassen über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres (Kinder-Richtlinien) zur Einführung des erweiterten Neugeborenen-Screenings vom 21. Dezember 2004. Dt Ärzteblatt 2005;102:A1158-63.
-
(2005)
Dt Ärzteblatt
, vol.102
-
-
Hess, R.1
-
15
-
-
84894119062
-
-
Accessed March 2010
-
Deutsche Gesellschaft für Neugeborenenscreening E.V. (DGNS). Nationaler Screeningreport. http://www.screening-dgns.de/screeningregister-2a. htm (Accessed March 2010).
-
Nationaler Screeningreport
-
-
-
16
-
-
79956105052
-
Quality of newborn screening in Germany after implementation of the new national screening guidelines in 2005
-
Nennstiel-Ratzel U, Lüders A, Blankenstein O, Starke I, Stopsack M, Fingerhut R, et al. Quality of newborn screening in Germany after implementation of the new national screening guidelines in 2005. Kinder- und Jugendmedizin 2009;9:88-92.
-
(2009)
Kinder- und Jugendmedizin
, vol.9
, pp. 88-92
-
-
Nennstiel-Ratzel, U.1
Lüders, A.2
Blankenstein, O.3
Starke, I.4
Stopsack, M.5
Fingerhut, R.6
-
17
-
-
77954660920
-
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
-
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, et al. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Mol Genet Metab 2010;100:333-8.
-
(2010)
Mol Genet Metab
, vol.100
, pp. 333-338
-
-
Alfardan, J.1
Mohsen, A.W.2
Copeland, S.3
Ellison, J.4
Keppen-Davis, L.5
Rohrbach, M.6
|